The impact of inversions across 33,924 families with rare disease from a national genome sequencing project-Reference-Cited by-同舟云学术

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Published:2024-06 Issue:6 Volume:111 Page:1140-1164
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Pagnamenta Alistair T.^ORCID,Yu Jing,Walker Susan,Noble Alexandra J.,Lord Jenny,Dutta Prasun,Hashim Mona,Camps Carme,Green Hannah,Devaiah Smrithi,Nashef Lina,Parr Jason,Fratter Carl,Ibnouf Hussein Rana,Lindsay Sarah J.,Lalloo Fiona,Banos-Pinero Benito,Evans David,Mallin Lucy,Waite Adrian,Evans Julie,Newman Andrew,Allen Zoe,Perez-Becerril Cristina,Ryan Gavin,Hart Rachel,Taylor John,Bedenham Tina,Clement Emma,Blair Ed,Hay Eleanor,Forzano Francesca,Higgs Jenny,Canham Natalie,Majumdar Anirban,McEntagart Meriel,Lahiri Nayana,Stewart Helen,Smithson Sarah,Calpena Eduardo,Jackson Adam,Banka Siddharth,Titheradge Hannah,McGowan Ruth,Rankin Julia,Shaw-Smith Charles,Evans D. Gareth,Burghel George J.,Smith Miriam J.,Anderson Emily,Madhu Rajesh,Firth Helen,Ellard Sian,Brennan Paul,Anderson Claire,Taupin Doug,Rogers Mark T.,Cook Jackie A.,Durkie Miranda,East James E.,Fowler Darren,Wilson Louise,Igbokwe Rebecca,Gardham Alice,Tomlinson Ian,Baralle Diana,Uhlig Holm H.,Taylor Jenny C.

Publisher

Elsevier BV

Reference83 articles.

1. Structural variation in the human genome;Feuk;Nat. Rev. Genet.,2006

2. Cytogenetically visible inversions are formed by multiple molecular mechanisms;Pettersson;Hum. Mutat.,2020

3. Mechanisms of structural chromosomal rearrangement formation;Burssed;Mol. Cytogenet.,2022

4. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders;Jacquemont;J. Med. Genet.,2006

5. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies;Miller;Am. J. Hum. Genet.,2010

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus;Genome Medicine;2024-09-13